Björnstad syndrome
Zuletzt aktualisiert 18. Aug 2020
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Björnstad syndrome is a rare disorder characterised by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Björnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.
Beschreibung
Björnstad syndrome is a rare disorder characterised by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Björnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.
People with Björnstad syndrome also have hearing problems that become evident in early childhood. The hearing loss, which is caused by changes in the inner ear (sensorineural deafness), can range from mild to severe. Mildly affected individuals may be unable to hear sounds at certain frequencies, while severely affected individuals may not be able to hear at all.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Bjornstad syndrome
BJS
Deafness and pili torti, Bjornstad type
Pili torti and nerve deafness
Pili torti-deafness syndrome
Pili torti-sensorineural hearing loss
PTD
Related patient information and medicines
Patient information leaflet
Refeeding-Syndrom
Refeeding syndrome was first described in Far East prisoners after the second world war when they developed heart failure after starting to eat again after a prolonged period of starvation. What is refeeding syndrome. Refeeding-Syndrom is a dangerous und life threatening shift of fluids and body salts (electrolytes) that can occur when.
Patient information leaflet
Fetales Antikonvulsivum-Syndrom
Fetales Antikonvulsivum-Syndrom (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.
Patient information leaflet
Schrillkopf-Syndrom
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of Arztpraxis cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Patient information leaflet
Wolff-Parkinson-White-Syndrom
Wolff-Parkinson-White syndrome is not common but can cause a fast heart rate or other heart rhythm abnormalities from time to time. Treatment can be given for the fast heart rate and also to prevent any further episodes. What is Wolff-Parkinson-White syndrome. In Wolff-Parkinson-White (WPW) syndrome there is an extra connection (an accessory.
Patient information leaflet
Charles-Bonnet-Syndrom
Charles Bonnet syndrome is a common condition experienced by people who are losing, or have lost, their sight. It involves seeing things which are not really there (having visual hallucinations). The hallucinations are most marked in low light or when relaxing and are often complicated scenes involving faces, children and wild animals. People.
Patient information leaflet
Osler-Weber-Rendu-Syndrom
Osler-Weber-Rendu syndrome is a disorder of the blood vessels that can cause excessive bleeding. Osler-Weber-Rendu syndrome is also called hereditary haemorrhagic telangiectasia. The abnormal blood vessels can cause bleeding both into the skin and inside your body. What is Osler-Weber-Rendu syndrome. People with Osler-Weber-Rendu syndrome can.
Weiterführende Lektüre und Referenzen
- Björnstad syndrome; MedlinePlus, National Library of Medicine.
- Hinson JT, Fantin VR, Schonberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE. Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome. N Engl J Med. 2007 Feb 22;356(8):809-19. doi: 10.1056/NEJMoa055262.
- Loche F, Bayle-Lebey P, Carriere JP, Bonafe JL, Bazex J, Schwarze HP. Pili torti with congenital deafness (Bjornstad syndrome): a case report. Pediatr Dermatol. 1999 May-Jun;16(3):220-1. doi: 10.1046/j.1525-1470.1999.00063.x.
- Richards KA, Mancini AJ. Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome. J Am Acad Dermatol. 2002 Feb;46(2):301-3. doi: 10.1067/mjd.2002.107969.
- Selvaag E. Pili torti and sensorineural hearing loss. A follow-up of Bjornstad's original patients and a review of the literature. Eur J Dermatol. 2000 Mar;10(2):91-7.
- Siddiqi S, Siddiq S, Mansoor A, Oostrik J, Ahmad N, Kazmi SA, Kremer H, Qamar R, Schraders M. Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. J Hum Genet. 2013 Dec;58(12):819-21. doi: 10.1038/jhg.2013.101. Epub 2013 Oct 31.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
18. Aug 2020 | Neueste Version
1 Mar 2014 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.